EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 19997654 2009
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 9195226 1997
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 21697856 2011
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407 1995
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433 1995
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 15967842 2005
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Limb-girdle muscular dystrophy due to emerin gene mutations. 17620497 2007
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 7894480 1994
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909 1999
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation disease CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715 1996
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 CausalMutation group CLINVAR
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 1998333 1991
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. 10220866 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407 1995
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Mutation analysis in Emery-Dreifuss muscular dystrophy. 10428430 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 1178008 1975
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 7294729 1981
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. 17355552 2007
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 8595406 1995
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 CausalMutation disease CLINVAR
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation disease CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909 1999
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation disease CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433 1995